Health care professionals' attitudes toward cancer gene panel testing.
Health care professionals' attitudes toward cancer gene panel testing.
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DOI：
10.1111/tbj.14210
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发表时间：
2021-05
期刊：
影响因子：
2.1
通讯作者：
Ostrer, Harry
中科院分区：
文献类型：
--
作者：
Klugman, Susan;Schnabel, Freya;Alim, Ishraq;Loke, Johnny;Arun, Banu;Chun Kim, Jennifer;Ostrer, Harry
2013年，美国最高法院发布了一项里程碑式的裁决，取消了基因专利，因为它们是自然发明，而不是人类发明。1这起诉讼的焦点是BRCA1和BRCA2基因专利，这些专利使Myriad Genetics成为美国乳腺癌和卵巢癌遗传风险测试的虚拟唯一提供商。作为对这一裁决的回应，一些实验室进入市场进行癌症风险测试。但这些供应商并没有将检测局限于BRCA1和BRCA2基因，而是对一些基因进行了小组测试，这些基因可能会在突变时传递癌症的种系风险。随后，这些测试在没有事先的临床验证研究的情况下被迅速引入临床实践。2014年，这项工作的许多作者发表了一份咨询报告，强调了为癌症风险的基因小组测试提供咨询应该解决的一些问题。提出的关切包括目标人群的定义、基因小组的内容、风险评估以及结果的解释和交流。2第二年，另一个独立的作者小组发表了另一份咨询意见，审查了赋予某些变异的癌症风险以及为其他罕见变异分配风险的困难。3令人满意地解决这些问题将建立癌症风险基因面板的临床有效性。
In 2013, the United States Supreme Court issued a landmark ruling that eliminated the patenting of genes, because they are inventions of nature, not humans. 1 The lawsuit focused on the BRCA1 and BRCA2 gene patents that enabled Myriad Genetics to become the virtual sole provider for testing of hereditary risk for breast and ovarian cancer in the United States. In response to this ruling, a number of laboratories entered the market to test for cancer risks. But rather than limit testing to the BRCA1 and BRCA2 genes, these providers developed panel testing for a number of genes that might convey germline risk of cancer, when mutated. Subsequently, these tests were rapidly introduced into clinical practice without prior clinical validation studies.An advisory highlighting a number of issues that should be addressed to aid counseling for gene panel testing for cancer risks was published in 2014 by many of the authors of this work. Concerns raised included definition of a target population, content for gene panels, risk assessment, and interpretation and communication of results. 2 The following year, a separate panel of authors published another advisory reviewing the difficulties in conferring a cancer risk for certain variants as well as assigning risks to other rare variants. 3 Satisfactorily addressing the issues would establish the clinical validity of gene panels for cancer risk.
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影响因子：
4.6
作者：
Kurian, Allison W.;Hughes, Elisha;Hall, Michael J.
通讯作者：
Hall, Michael J.
影响因子：
28.4
作者：
Couch FJ;Shimelis H;Hu C;Hart SN;Polley EC;Na J;Hallberg E;Moore R;Thomas A;Lilyquist J;Feng B;McFarland R;Pesaran T;Huether R;LaDuca H;Chao EC;Goldgar DE;Dolinsky JS
通讯作者：
Dolinsky JS
DOI：
10.6004/jnccn.2020.0017
发表时间：
2020-04-01
影响因子：
13.4
作者：
Daly, Mary B.;Pilarski, Robert;Darlow, Susan D.
通讯作者：
Darlow, Susan D.
影响因子：
1.9
作者：
Hiraki, Susan;Rinella, Erica S.;Ostrer, Harry
通讯作者：
Ostrer, Harry
DOI：
10.1056/nejmsr1501341
发表时间：
2015-06-04
期刊：
The New England journal of medicine
影响因子：
--
作者：
Easton DF;Pharoah PD;Antoniou AC;Tischkowitz M;Tavtigian SV;Nathanson KL;Devilee P;Meindl A;Couch FJ;Southey M;Goldgar DE;Evans DG;Chenevix-Trench G;Rahman N;Robson M;Domchek SM;Foulkes WD
通讯作者：
Foulkes WD